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2.
Braz. j. med. biol. res ; 40(7): 919-926, July 2007. tab, graf
Article Dans Anglais | LILACS | ID: lil-455989

Résumé

The aim of the present study was to determine if there is an association between the single nucleotide polymorphisms (SNPs) of the lipoprotein lipase (LPL) and apolipoprotein E (apo E) genes and the serum lipid profile in pregnancy and puerperium. Non-diabetic women of European descent in the third semester of pregnancy (N = 120) were selected. Those with diseases or other condition that could modify their lipid profile were excluded from the study (N = 32). Serum lipids were measured by routine laboratory procedures and genomic DNA was extracted by a salting out method. LPL (PvuII and HindIII) and apo E (HhaI) SNPs were detected by the polymerase chain reaction and restriction fragment length polymorphism. Categorical and continuous variables were compared by the chi-square test and Student t-test or ANOVA, respectively. Women carrying the LPL P1P1 genotype had higher serum LDL cholesterol (N = 21; 155 ± 45 mg/dL) than women carrying the P1P2/P2P2 genotypes (N = 67; 133 ± 45 mg/dL; P = 0.032). During the puerperium period, serum levels of triglycerides and VLDL cholesterol were significantly reduced in women carrying the P1P1 (73 percent, P = 0.006) and P1P2 (51 percent, P = 0.002) genotypes but not in women carrying the P2P2 genotype (23 percent, P > 0.05). On the other hand, serum concentrations of lipids did not differ between the LPL HindIII and apo E genotypes during pregnancy and after delivery. We conclude that LPL PvuII SNP is associated with variations in serum lipids during pregnancy and the puerperal period in non-diabetic women.


Sujets)
Adolescent , Adulte , Femelle , Humains , Apolipoprotéines E/génétique , Type II site-specific deoxyribonuclease/génétique , Lipides/sang , Lipoprotein lipase/génétique , Période du postpartum/sang , Grossesse/sang , Analyse de variance , ADN , , Fréquence d'allèle , Génotype , Lipides/génétique , Réaction de polymérisation en chaîne , Polymorphisme de restriction , Polymorphisme de nucléotide simple/génétique , Valeurs de référence
3.
Braz. j. med. biol. res ; 38(9): 1389-1397, Sept. 2005. tab, graf
Article Dans Anglais | LILACS, SES-SP | ID: lil-408367

Résumé

The MDR1 gene encodes the P-glycoprotein, an efflux transporter with broad substrate specificity. P-glycoprotein has raised great interest in pharmacogenetics because it transports a variety of structurally divergent drugs, including lipid-lowering drugs. The synonymous single-nucleotide polymorphism C3435T and the nonsynonymous single-nucleotide polymorphism G2677T/A in MDR1 have been indicated as potential determinants of variability in drug disposition and efficacy. In order to evaluate the effect of G2677T/A and C3435T MDR1 polymorphisms on serum levels of lipids before and after atorvastatin administration, 69 unrelated hypercholesterolemic individuals from São Paulo city, Brazil, were selected and treated with 10 mg atorvastatin orally once daily for four weeks. MDR1 polymorphisms were analyzed by PCR-RFLP. C3435T and G2677T polymorphisms were found to be linked. The allelic frequencies for C3435T polymorphism were 0.536 and 0.464 for the 3435C and 3435T alleles, respectively, while for G2677T/A polymorphism allele frequencies were 0.580 for the 2677G allele, 0.384 for the 2677T allele and 0.036 for the 2677A allele. There was no significant relation between atorvastatin response and MDR1 polymorphisms (repeated measures ANOVA; P > 0.05). However, haplotype analysis revealed an association between T/T carriers and higher basal serum total (TC) and LDL cholesterol levels (TC: 303 ± 56, LDL-C: 216 ± 57 mg/dl, respectively) compared with non-T/T carriers (TC: 278 ± 28, LDL-C: 189 ± 24 mg/dl; repeated measures ANOVA/Tukey test; P < 0.05). These data indicate that MDR1 polymorphism may have an important contribution to the control of basal serum cholesterol levels in Brazilian hypercholesterolemic individuals of European descent.


Sujets)
Adulte , Sujet âgé , Femelle , Humains , Mâle , Adulte d'âge moyen , Cholestérol LDL/sang , Gènes MDR/génétique , Haplotypes/génétique , Hypercholestérolémie/génétique , Glycoprotéine P/génétique , Anticholestérolémiants/usage thérapeutique , Brésil , Cholestérol LDL/génétique , , Fréquence d'allèle , Acides heptanoïques/usage thérapeutique , Hypercholestérolémie/sang , Hypercholestérolémie/traitement médicamenteux , Hypercholestérolémie/ethnologie , Réaction de polymérisation en chaîne , Polymorphisme génétique , Polymorphisme de restriction , Polymorphisme de nucléotide simple , Pyrroles/usage thérapeutique
4.
Braz. j. med. biol. res ; 33(11): 1301-4, Nov. 2000. tab
Article Dans Anglais | LILACS | ID: lil-273224

Résumé

Familial hypercholesterolemia (FH) is a metabolic disorder inherited as an autosomal dominant trait characterized by an increased plasma low-density lipoprotein (LDL) level. The disease is caused by several different mutations in the LDL receptor gene. Although early identification of individuals carrying the defective gene could be useful in reducing the risk of atherosclerosis and myocardial infarction, the techniques available for determining the number of the functional LDL receptor molecules are difficult to carry out and expensive. Polymorphisms associated with this gene may be used for unequivocal diagnosis of FH in several populations. The aim of our study was to evaluate the genotype distribution and relative allele frequencies of three polymorphisms of the LDL receptor gene, HincII1773 (exon 12), AvaII (exon 13) and PvuII (intron 15), in 50 unrelated Brazilian individuals with a diagnosis of heterozygous FH and in 130 normolipidemic controls. Genomic DNA was extracted from blood leukocytes by a modified salting-out method. The polymorphisms were detected by PCR-RFLP. The FH subjects showed a higher frequency of A+A+ (AvaII), H+H+ (HincII1773) and P1P1 (PvuII) homozygous genotypes when compared to the control group (P<0.05). In addition, FH probands presented a high frequency of A+ (0.58), H+ (0.61) and P1 (0.78) alleles when compared to normolipidemic individuals (0.45, 0.45 and 0.64, respectively). The strong association observed between these alleles and FH suggests that AvaII, HincII1773 and PvuII polymorphisms could be useful to monitor the inheritance of FH in Brazilian families


Sujets)
Humains , Mâle , Femelle , Adulte d'âge moyen , ADN/analyse , Hyperlipoprotéinémie de type II/génétique , Polymorphisme de restriction , Récepteurs aux lipoprotéines LDL/génétique , Allèles , Analyse de variance , Études cas-témoins , ADN/génétique , Génotype , Hyperlipoprotéinémie de type II/diagnostic , Réaction de polymérisation en chaîne
5.
Biol. Res ; 33(2): 105-12, 2000. graf, tab
Article Dans Anglais | LILACS | ID: lil-443672

Résumé

Lipid peroxidation and lipid-derived oxidized products have been implicated in the pathogenesis of a variety of human diseases. To clarify the role of oxidative stress in essential hypertension and hypercholesterolemia the in vitro oxidative susceptibility of LDL, the antioxidant status and the lipid peroxide content of blood plasma were examined in hypercholesterolemic (HC), hypertensive (H), hypercholesterolemic/hypertensive (HH) and normolipidemic/normotensive subjects (N). Plasma ascorbate and lipid-soluble antioxidants were lower, while LDL oxidizability, CE-OOH and TL-OOH were higher in H, HC, and HH groups than in the N group. No difference was observed among groups for PL-OOH and isoprostanes. In summary, the results show that: 1) lipid- and water-soluble antioxidants are lower in hypercholesterolemic and hypertensive patients as compared to normal subjects, whereas the lipid peroxide content and the LDL susceptibility to oxidation were higher; 2) total cholesterol, LDL-cholesterol, apoB and CE-OOH were negatively correlated with the content of a-tocopherol; 3) there was a positive correlation between the content of lipid-soluble antioxidants and the resistance of LDL to oxidation; and 4) CE-OOH and TL-OOH were positively correlated with total cholesterol and LDL-cholesterol.


Sujets)
Humains , Antioxydants/analyse , Cholestérol LDL , Hyperlipidémies , Hypertension artérielle/sang , Peroxydation lipidique/physiologie , Peroxydes lipidiques/sang , Études cas-témoins , Stress oxydatif/physiologie
6.
Rev. Soc. Cardiol. Estado de Säo Paulo ; 6(1): 1-5, jan.-fev. 1996.
Article Dans Portugais | LILACS | ID: lil-165686

Résumé

Etudos têm demonstrado que o sedentarismo está associado com maior incidência de doença coronária. Inversamente, a prática regular de atividade física é útil na prevençäo primária e secundária dessa importante doença. Os mecanismos pelos quais os exercícios físicos influem sobre a doença coronária näo estäo total totalmente elucidados. Sabe-se que a açäo benéfica da atividade física pode depender da melhora da capacidade cardiorrespiratória e da atuaçäo sobre vários fatores de risco importantes paro desencadeamento da aterosclerose coronária. Tem sido demonstrado que a intensidade de exercício capas de melhorar o perfil metabólico é menor do que a necessária para levar o incremento importante da capacidade cardiorrespiratória.


Sujets)
Exercice physique , Effort physique , Maladies cardiovasculaires/prévention et contrôle , Facteurs de risque
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